Works matching Achondroplasia

Results: 839

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Published in:

2022

By:

Cormier-Daire, Valerie;
AlSayed, Moeenaldeen;
Alves, Inês;
Bengoa, Joana;
Ben-Omran, Tawfeg;
Boero, Silvio;
Fredwall, Svein;
Garel, Catherine;
Guillen-Navarro, Encarna;
Irving, Melita;
Lampe, Christian;
Maghnie, Mohamad;
Mortier, Geert;
Sousa, Sérgio B.;
Mohnike, Klaus

Publication type:

journal article

Fókuszban az achondroplasia.

Published in:

Gyermekgyógyászat, 2022, v. 73, n. 4, p. 274

By:

Zita, Halász

Publication type:

Article

Intramedulárna osteosyntéza suprakondylickej zlomeniny femuru u pacienta s achondropláziou. Malý rozmer obmedzuje.

Published in:

Acta Chirurgiae Orthopaedicae et Traumatologiae Čechoslovaca, 2021, v. 88, n. 3, p. 233

By:

ŠEVCECH, B.;
VAJCZIKOVÁ, S.;
CHANDOGA, I.;
ŠTEŇO, B.

Publication type:

Article

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2

By:

Irving, Melita;
AlSayed, Moeenaldeen;
Arundel, Paul;
Baujat, Geneviève;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valérie;
Fredwall, Svein;
Guillen-Navarro, Encarna;
Hoyer-Kuhn, Heike;
Kunkel, Philip;
Lampe, Christian;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Sousa, Sérgio B.

Publication type:

Article

Optimising care and follow-up of adults with achondroplasia.

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3

By:

Fredwall, Svein;
Allum, Yana;
AlSayed, Moeenaldeen;
Alves, Inês;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valerie;
Guillen-Navarro, Encarna;
Irving, Melita;
Lampe, Christian;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Sousa, Sérgio B.;
Wright, Michael

Publication type:

Article

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

Published in:

2021

By:

Hoover-Fong, Julie E.;
Schulze, Kerry J.;
Alade, Adekemi Y.;
Bober, Michael B.;
Gough, Ethan;
Hashmi, S. Shahrukh;
Hecht, Jacqueline T.;
Legare, Janet M.;
Little, Mary Ellen;
Modaff, Peggy;
Pauli, Richard M.;
Rodriguez-Buritica, David F.;
Serna, Maria E.;
Smid, Cory;
Liu, Chengxin;
McGready, John

Publication type:

journal article

早期诊断和治疗对于改善软骨发育不全患儿身高结局的意义和思考.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 3, p. 262, doi. 10.7499/j.issn.1008-8830.2410107

By:

李黎;
熊丰

Publication type:

Article

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7

By:

Guillen-Navarro, Encarna;
AlSayed, Moeenaldeen;
Alves, Inês;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valérie;
Fauroux, Brigitte;
Fredwall, Svein;
Irving, Melita;
Kunkel, Philip;
Lampe, Christian;
Lausch, Ekkehart;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Pejin, Zagorka;
Sessa, Marco;
Sousa, Sérgio B.

Publication type:

Article

Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia.

Published in:

Journal of Dental Research & Review, 2022, v. 9, n. 3, p. 261, doi. 10.4103/jdrr.jdrr_40_22

By:

Govindraj, Varun;
Datana, Sanjeev;
Sharma, Mohit;
Chauhan, Deepak

Publication type:

Article

The first European consensus on principles of management for achondroplasia.

Published in:

2021

By:

Cormier-Daire, Valerie;
AlSayed, Moeenaldeen;
Ben-Omran, Tawfeg;
de Sousa, Sérgio Bernardo;
Boero, Silvio;
Fredwall, Svein O.;
Guillen-Navarro, Encarna;
Irving, Melita;
Lampe, Christian;
Maghnie, Mohamad;
Mortier, Geert;
Peijin, Zagorka;
Mohnike, Klaus

Publication type:

journal article

DZIECKO Z ACHONDROPLAZJĄ - UJĘCIE INTERDYSCYPLINARNE Z PERSPEKTYWY BIOLOGII I PEDAGOGIKI.

Published in:

Man - Disability - Society / Człowiek – Niepełnosprawność – Społeczeństwo, 2020, v. 50, n. 4, p. 109, doi. 10.5604/01.3001.0014.5019

By:

WOJDA, IWONA;
MIKLER-CHWASTEK, ANNA

Publication type:

Article

The (extended) achondroplasia foramen magnum score has good observer reliability.

Published in:

Pediatric Radiology, 2022, v. 52, n. 8, p. 1512, doi. 10.1007/s00247-022-05348-0

By:

Jenko, Nathan;
Connolly, Daniel J. A.;
Raghavan, Ashok;
Fernandes, James A.;
Ushewokunze, Shungu;
Elphick, Heather E.;
Arundel, Paul;
Alhun, Utku;
Offiah, Amaka C.

Publication type:

Article

Wydłużenie kości ramiennej z zastosowaniem dystraktów monolateralnych u chorych z achondroplazją.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 3, p. 121

By:

Shadi, Milud;
Koczewski, Pawel

Publication type:

Article

Reverse Total Shoulder Arthroplasty in an Adult With Achondroplasia.

Published in:

Ochsner Journal, 2024, v. 24, n. 3, p. 207, doi. 10.31486/toj.23.0135

By:

Suri, Misty;
Grilliot, Jordan;
Verma, Arjun;
Renshaw, Andrew;
Jones, Deryk;
Finger, Simon

Publication type:

Article

Characteristics of sleep disordered breathing in children with achondroplasia.

Published in:

Sleep & Breathing, 2025, v. 29, n. 1, p. 1, doi. 10.1007/s11325-025-03258-7

By:

Feller, Claire;
Gunaratnam, Bakeerathan;
El-Kersh, Karim;
Senthilvel, Egambaram

Publication type:

Article

Evolution of sleep disordered breathing in infants with achondroplasia.

Published in:

Sleep & Breathing, 2025, v. 29, n. 1, p. 1, doi. 10.1007/s11325-025-03254-x

By:

Legare, Janet M.;
Ingram, David G.;
Pauli, Richard M.;
Hecht, Jacqueline T.;
Dujmusic, Lorena;
Rodriguez-Buritica, David F.;
Campbell, Jeffrey W.;
Modaff, Peggy;
Little, Mary E.;
Smid, Cory J.;
Serna, Maria E.;
Bober, Michael B.;
Hoover-Fong, Julie E.;
Hashmi, S. Shahrukh

Publication type:

Article

Trigeminal Neuralgia Associated with Achondroplasia. Case Report with Literature Review.

Published in:

Acta Neurochirurgica, 2001, v. 143, n. 11, p. 1173, doi. 10.1007/s007010100010

By:

Takada, Y.;
Morimoto, T.;
Sugawara, T.;
Ohno, K.

Publication type:

Article

Assessing the impacts of having a child with achondroplasia on parent well-being.

Published in:

2021

By:

Pfeiffer, Kathryn M.;
Brod, Meryl;
Smith, Alden;
Gianettoni, Jill;
Viuff, Dorthe;
Ota, Sho;
Charlton, R. Will

Publication type:

journal article

Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia.

Published in:

2019

By:

Bloemeke, Janika;
Sommer, Rachel;
Witt, Stefanie;
Bullinger, Monika;
Nordon, Clementine;
Badia, Francisco Javier;
González, Felipe Luna;
Leiva-Gea, Antonio;
Delgado Rufino, Francisco de Borja;
Mayoral-Cleries, Fermín;
Romero-Sanchiz, Pablo;
Clamagirand Saiz, Verónica;
Nogueira-Arjona, Raquel;
Mohnike, Klaus;
Quitmann, Julia

Publication type:

journal article

Leczenie hormonem wzrostu chłopca z achondroplazją i somatotropinową niedoczynnością przysadki - opis przypadku.

Published in:

Pediatric Endocrinology / Endokrynologia Pediatryczna, 2016, v. 15, n. 1, p. 55, doi. 10.18544/EP-01.15.01.1638

By:

Litwin, Linda;
Klimaszewska-Adamus, Karolina;
Ziora, Katarzyna

Publication type:

Article

Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia.

Published in:

Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00867

By:

Sims, David T.;
Onambélé-Pearson, Gladys L.;
Burden, Adrian;
Payton, Carl;
Morse, Christopher I.

Publication type:

Article

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Published in:

2023

By:

Kishore, H.

Publication type:

Case Study

Achondroplasia and Macular Coloboma.

Published in:

2015

By:

Ahoor, M. H.;
Amizadeh, Y.;
Sorkhabi, R.

Publication type:

Case Study

Intramedulárna osteosyntéza suprakondylickej zlomeniny femuru u pacienta s achondropláziou. Malý rozmer obmedzuje.

Published in:

Acta Chirurgiae Orthopaedicae et Traumatologiae Čechoslovaca, 2021, v. 88, n. 5, p. 233

By:

ŠEVCECH, B.;
VAJCZIKOVÁ, S.;
CHANDOGA, I.;
ŠTEŇO, B.

Publication type:

Article

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Published in:

2016

By:

Haiming Yuan;
Linhuan Huang;
Xizi Hu;
Qian Li;
Xiaofang Sun;
Yingjun Xie;
Shu Kong;
Xiaoman Wang;
Yuan, Haiming;
Huang, Linhuan;
Hu, Xizi;
Li, Qian;
Sun, Xiaofang;
Xie, Yingjun;
Kong, Shu;
Wang, Xiaoman

Publication type:

journal article

Management of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report.

Published in:

BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-024-08224-0

By:

Nozaka, Koji;
Shirahata, Tsuyoshi;
Yuasa, Yusuke;
Miyakoshi, Naohisa

Publication type:

Article

A case of successful coronary angioplasty in an achondroplasia patient with total occlusion of an anomalous right coronary artery (case report).

Published in:

2020

By:

Ali, Mustafa Ibrahiem Mohammed;
Albashir, Ahmed Abdalazim Dafallah;
Elawad, Omer Ali Mohamed Ahmed;
Mohamed, Makram Aboali Ebied

Publication type:

Case Study

Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes.

Published in:

Sleep & Breathing, 2011, v. 15, n. 4, p. 755, doi. 10.1007/s11325-010-0432-6

By:

Afsharpaiman, Shahla;
Sillence, David;
Sheikhvatan, Mehrdad;
Ault, Jenny;
Waters, Karen

Publication type:

Article

Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia.

Published in:

Global Spine Journal, 2024, v. 14, n. 6, p. 1793, doi. 10.1177/21925682231157373

By:

Chan, Julie L.;
Quintero-Consuegra, Miguel D.;
Kanim, Linda E.A.;
Kropf, Michael A.;
Bernstein, Robert;
Perry, Tiffany G.;
Walker, Corey T.;
Danielpour, Moise;
Tuchman, Alexander

Publication type:

Article

Posterior Spinal Osteotomy Surgery is an Effective Method for the Correction of Progressive Thoracolumbar Kyphosis in Patients With Achondroplasia.

Published in:

Global Spine Journal, 2018, v. 8, p. 145S, doi. 10.1177/2192568218771030

By:

Leilei Xu;
Chao Xia;
Yong Qiu;
Zezhang Zhu

Publication type:

Article

Anesthesia for cesarean section in a patient with achondroplasia.

Published in:

Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2012, v. 40, n. 4, p. 309

By:

Osorio Rudasa, Walter;
Socha García, Nury Isabel;
Upegui, Alejandro;
Ríos Medina, Ángela;
Moran, Adrian;
Aguirre Ospina, Oscar;
Rivera, Carlos

Publication type:

Article

Prenatal diagnosis of achondroplasia in primary care settings -- Recognising the soft markers: A case report.

Published in:

Malaysian Family Physician, 2024, p. 1, doi. 10.51866/cr.698

By:

Mohd Fudzi, Wan Fadzleen Ezyani;
Yaacob, Lili Husniati;
Rahman, Razlina Abdul;
Lau, Chiew Chea

Publication type:

Article

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia.

Published in:

2018

By:

Song, Mi Hyun;
Lee, Tae-Jin;
Song, Jong Hyeop;
Song, Hae-Ryong

Publication type:

journal article

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Published in:

Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0

By:

Carroll, Ricki S.;
Olney, Robert C.;
Duker, Angela L.;
Coghlan, Ryan F.;
Mackenzie, William G.;
Ditro, Colleen P.;
Brown, Cassondra J.;
O'Connell, David A.;
Horton, William A.;
Johnstone, Brian;
Espiner, Eric A.;
Prickett, Timothy C. R.;
Bober, Michael B.

Publication type:

Article

Simultaneous Bilateral Femoral and Tibial Lengthening in Achondroplasia.

Published in:

Children, 2021, v. 8, n. 9, p. 1, doi. 10.3390/children8090749

By:

Shabtai, Lior;
Jauregui, Julio J.;
Herzenberg, John E.;
Gesheff, Martin G.;
Standard, Shawn C.;
McClure, Philip K.

Publication type:

Article

Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia.

Published in:

Children, 2021, v. 8, n. 7, p. 1, doi. 10.3390/children8070540

By:

Paley, Dror

Publication type:

Article

Health-related Quality of Life in Patients with Achondroplasia after Global Limb-lengthening Surgery: A Case Series.

Published in:

Journal of Limb Lengthening & Reconstruction, 2024, v. 10, n. 2, p. 55, doi. 10.4103/jllr.jllr_7_24

By:

Ginebreda, Ignacio;
Ibáñez, Maximiliano;
Canu, Nicole;
Echavarria, Carolina;
Lebre, Joana;
Pérez, Miriam

Publication type:

Article

Successful polar body-based preimplantation genetic diagnosis for achondroplasia.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 276, doi. 10.1016/S1472-6483(10)60586-X

By:

Altarescu, Gheona;
Renbaum, P.;
Brooks P., B.;
Margalioth, E. J.;
Chetrit, A. Ben;
Munter, G.;
Levy-Lahad, E.;
Eldar-Geva, T.

Publication type:

Article

Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2135, doi. 10.3390/jcm13072135

By:

Bayartai, Munkh-Erdene;
Luomajoki, Hannu;
Aliverti, Andrea;
LoMauro, Antonella;
Tringali, Gabriella;
Sartorio, Alessandro

Publication type:

Article

Achondroplasia with seronegative spondyloarthropathy resulting in recurrent spinal stenosis: A case report.

Published in:

Surgical Neurology International, 2021, v. 12, p. 1, doi. 10.25259/SNI_409_2021

By:

Sakhrekar, Rajendra;
Hadgaonkar, Shailesh;
Hadgaonkar, Manisha;
Sancheti, Parag;
Shyam, Ashok

Publication type:

Article

Optimal management of complications associated with achondroplasia.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485

By:

Ireland, Penny J.;
Pacey, Verity;
Zankl, Andreas;
Edwards, Priya;
Johnston, Leanne M.;
Savarirayan, Ravi

Publication type:

Article

Rehabilitation of a pediatric achondroplasia patient - Case report.

Published in:

Polish Annals of Medicine, 2019, v. 26, n. 1, p. 55, doi. 10.29089/2018.18.00067

By:

Warmowska-Dawid, Alicja;
Krzywda, Danuta;
Regin, Kamila;
Kowalski, Ireneusz M.

Publication type:

Article

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 179, doi. 10.1111/cge.13542

By:

Fredwall, Svein O.;
Maanum, Grethe;
Johansen, Heidi;
Snekkevik, Hildegun;
Savarirayan, Ravi;
Lidal, Ingeborg B.

Publication type:

Article

Real-world evidence in achondroplasia: considerations for a standardized data set.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w

By:

Alanay, Yasemin;
Mohnike, Klaus;
Nilsson, Ola;
Alves, Inês;
AlSayed, Moeenaldeen;
Appelman-Dijkstra, Natasha M.;
Baujat, Genevieve;
Ben-Omran, Tawfeg;
Breyer, Sandra;
Cormier-Daire, Valerie;
Gregersen, Pernille Axél;
Guillén-Navarro, Encarna;
Högler, Wolfgang;
Maghnie, Mohamad;
Mukherjee, Swati;
Cohen, Shelda;
Pimenta, Jeanne;
Selicorni, Angelo;
Semler, J. Oliver;
Sigaudy, Sabine

Publication type:

Article

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02738-x

By:

Nahm, Nickolas J.;
Mackenzie, W. G. Stuart;
Mackenzie, William G.;
Gough, Ethan;
Hashmi, S. Shahrukh;
Hecht, Jacqueline T.;
Legare, Janet M.;
Little, Mary Ellen;
Modaff, Peggy;
Pauli, Richard M.;
Rodriguez-Buritica, David F.;
Serna, Maria Elena;
Smid, Cory J.;
Hoover-Fong, Julie;
Bober, Michael B.

Publication type:

Article

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02664-y

By:

Morice, Anne;
Taverne, Maxime;
Eché, Sophie;
Griffon, Lucie;
Fauroux, Brigitte;
Leboulanger, Nicolas;
Couloigner, Vincent;
Baujat, Geneviève;
Cormier-Daire, Valérie;
Picard, Arnaud;
Legeai-Mallet, Laurence;
Kadlub, Natacha;
Khonsari, Roman Hossein

Publication type:

Article

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2

By:

Maghnie, Mohamad;
Semler, Oliver;
Guillen-Navarro, Encarna;
Selicorni, Angelo;
Heath, Karen E.;
Haeusler, Gabriele;
Hagenäs, Lars;
Merker, Andrea;
Leiva-Gea, Antonio;
González, Vanesa López;
Raimann, Adalbert;
Rehberg, Mirko;
Santos-Simarro, Fernando;
Ertl, Diana-Alexandra;
Gregersen, Pernille Axél;
Onesimo, Roberta;
Landfeldt, Erik;
Jarrett, James;
Quinn, Jennifer;
Rowell, Richard

Publication type:

Article

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02641-5

By:

Fredwall, Svein O.;
Linge, Jennifer;
de Vries, Olga;
Leinhard, Olof Dahlqvist;
Eggesbø, Heidi Beate;
Weedon-Fekjær, Harald;
Petersson, Mikael;
Widholm, Per;
Månum, Grethe;
Savarirayan, Ravi

Publication type:

Article

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Published in:

2022

By:

Savarirayan, Ravi;
Baratela, Wagner;
Butt, Thomas;
Cormier-Daire, Valérie;
Irving, Melita;
Miller, Bradley S.;
Mohnike, Klaus;
Ozono, Keiichi;
Rosenfeld, Ron;
Selicorni, Angelo;
Thompson, Dominic;
White, Klane K.;
Wright, Michael;
Fredwall, Svein O.

Publication type:

journal article

Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials.

Published in:

2022

By:

Aldhouse, Natalie V. J.;
Kitchen, Helen;
Johnson, Chloe;
Marshall, Chris;
Pegram, Hannah;
Pease, Sheryl;
Collins, Sam;
Baker, Christine L.;
Beaverson, Katherine;
Crews, Chandler;
Massey, Jill;
Wyrwich, Kathleen W.

Publication type:

journal article